NM_024782.3(NHEJ1):c.547C>T (p.Pro183Ser) AND Cernunnos-XLF deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001904111.6
Allele description [Variation Report for NM_024782.3(NHEJ1):c.547C>T (p.Pro183Ser)]
NM_024782.3(NHEJ1):c.547C>T (p.Pro183Ser)
Condition(s)
- Name:
- Cernunnos-XLF deficiency (IMD124)
- Synonyms:
- SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION; NHEJ1 SYNDROME; Severe combined immunodeficiency with sensitivity to ionizing radiation due to NHEJ1 deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012650; MedGen: C1969799; Orphanet: 169079; OMIM: 611291
-
Rattus norvegicus ubiquitin-conjugating enzyme E2E 2 (UBC4/5 homolog, yeast), mR...
Rattus norvegicus ubiquitin-conjugating enzyme E2E 2 (UBC4/5 homolog, yeast), mRNA (cDNA clone IMAGE:7382303), partial cdsgi|68533844|gb|BC099169.1|Nucleotide
-
dg23e09.y1 Xenopus laevis gastrula non normalized Xenopus laevis cDNA clone IMAG...
dg23e09.y1 Xenopus laevis gastrula non normalized Xenopus laevis cDNA clone IMAGE:3749848 5', mRNA sequencegi|11785838|gnl|dbEST|7125862|gb|BF 6.1|Nucleotide
-
AGENCOURT_21860857 XtSt10-30 Xenopus tropicalis cDNA clone IMAGE:7091433 3', mRN...
AGENCOURT_21860857 XtSt10-30 Xenopus tropicalis cDNA clone IMAGE:7091433 3', mRNA sequencegi|46381907|gnl|dbEST|22465494|gb|C 71.1|Nucleotide
-
AGENCOURT_15088828 NICHD_XGC_Emb8 Xenopus tropicalis cDNA clone IMAGE:6982660 3'...
AGENCOURT_15088828 NICHD_XGC_Emb8 Xenopus tropicalis cDNA clone IMAGE:6982660 3', mRNA sequencegi|33445712|gnl|dbEST|19456408|gb|C 04.1|Nucleotide
-
AGENCOURT_15932455 XtSt10-30 Xenopus tropicalis cDNA clone IMAGE:7028516 5', mRN...
AGENCOURT_15932455 XtSt10-30 Xenopus tropicalis cDNA clone IMAGE:7028516 5', mRNA sequencegi|37741547|gnl|dbEST|20091770|gb|C 06.1|Nucleotide
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Last Updated: Sep 29, 2024